Biomarkers of fabry disease nephropathy

Raphael Schiffmann, Stephen Waldek, Ariela Benigni, Christiane Auray-Blais

Research output: Contribution to journalArticlepeer-review


It is suggested that biomarkers of renal complications of Fabry disease are likely to be useful for diagnosis and to follow the natural disease progression or the effect of specific therapeutic interventions. Traditionally, globotriaosylceramide (Gb3) in urine has been used to evaluate the effect of specific therapy, such as enzyme replacement therapy (ERT). Although urinary Gb3 decreases significantly with ERT, it has not yet been shown to be a valid surrogate marker in treatment trials. We propose a detailed study of the nature and origin of Gb3 combined with a prospective collaborative trial that combines Gb3 changes with the effect of ERT on clinical nephrological outcome measures. Existing biomarkers such as general proteinuria/albuminuria or specific proteins such as N-acetyl-β-D- glucosaminidase should be evaluated along with novel proteomic or metabolomic studies for biomarker discovery using mass spectrometry or nuclear magnetic resonance. Standard scoring of all pathologic aspects of kidney biopsies may also be a promising way to assess the effect of therapy.

Original languageEnglish
Pages (from-to)360-364
Number of pages5
JournalClinical Journal of the American Society of Nephrology
Issue number2
Publication statusPublished - 2010

ASJC Scopus subject areas

  • Critical Care and Intensive Care Medicine
  • Epidemiology
  • Nephrology
  • Transplantation


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